Red Blood Cell Enzyme Disorders

Pediatr Clin North Am. 2018 Jun;65(3):579-595. doi: 10.1016/j.pcl.2018.02.005.

Abstract

Mature red blood cells are reliant on the glycolytic pathway for energy production and the hexose monophosphate shunt for cell protection from oxidative insults. The most common red blood cell enzyme disorders are characterized by hemolysis but with wide clinical variability. Glucose-6-phosphate dehydrogenase deficiency is the most common red cell enzyme disorder worldwide. Frequent clinical presentations include neonatal jaundice and episodic hemolysis after exposure to oxidative stress. Symptoms of pyruvate kinase deficiency and other glycolytic enzyme disorders include neonatal jaundice, chronic hemolytic anemia, gallstones, and transfusion-related and transfusion-independent iron overload. Diagnosis is critical for appropriate supportive care, monitoring, and treatment.

Keywords: Anemia; Cholecystectomy; Glucose-6-phosphate dehydrogenase deficiency; Other red cell enzyme disorders; Pyruvate kinase deficiency; Splenectomy.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Anemia, Hemolytic, Congenital Nonspherocytic / diagnosis*
  • Anemia, Hemolytic, Congenital Nonspherocytic / etiology*
  • Glucosephosphate Dehydrogenase Deficiency / diagnosis*
  • Glucosephosphate Dehydrogenase Deficiency / etiology*
  • Glucosephosphate Dehydrogenase Deficiency / therapy
  • Humans
  • Pyruvate Kinase / deficiency*
  • Pyruvate Kinase / therapeutic use
  • Pyruvate Metabolism, Inborn Errors / diagnosis*
  • Pyruvate Metabolism, Inborn Errors / etiology*

Substances

  • Pyruvate Kinase

Supplementary concepts

  • Pyruvate Kinase Deficiency of Red Cells